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Entry
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- #618123 - POLYDACTYLY, POSTAXIAL, TYPE A8; PAPA8
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- OMIM
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<span class="h4">#618123</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/618123"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS174200"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div style="display: table-cell;">External Links</div>
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</h4>
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<div><a href="https://clinicaltrials.gov/search?cond=(POLYDACTYLY, POSTAXIAL, TYPE) OR (GLI1)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=287&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=618123[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=289" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 289<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
|
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<span class="text-danger"><strong>#</strong></span>
|
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618123
|
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</span>
|
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</span>
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</div>
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</div>
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<div>
|
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
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POLYDACTYLY, POSTAXIAL, TYPE A8; PAPA8
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</span>
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</h3>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
|
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Phenotype <br /> MIM number
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</th>
|
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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<th>
|
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Gene/Locus
|
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</th>
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<th>
|
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/12/540?start=-3&limit=10&highlight=540">
|
|
12q13.3
|
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</a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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Polydactyly, postaxial, type A8
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/618123"> 618123 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<td>
|
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<span class="mim-font">
|
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GLI1
|
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/165220"> 165220 </a>
|
|
</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
|
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<a href="/clinicalSynopsis/618123" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS174200" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/618123" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/618123" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
|
</div>
|
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|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short stature (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
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|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Genu valgum (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299330008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299330008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52012001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52012001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.06" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.06</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158484&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158484</a>, <a href="https://bioportal.bioontology.org/search?q=C0576093&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0576093</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002857" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002857</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002857" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002857</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Postaxial polydactyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0220697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0220697</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100259</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100259</a>]</span><br /> -
|
|
No duplication of metacarpals <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4748279&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4748279</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Feet </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Postaxial polydactyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0220697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0220697</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100259</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100259</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Phenotypic variability, with only hands or only feet affected in some patients<br /> -
|
|
Supernumerary digits have well-formed nails<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the GLI family zinc finger 1 gene (GLI1, <a href="/entry/165220#0001">165220.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Polydactyly, postaxial
|
|
- <a href="/phenotypicSeries/PS174200">PS174200</a>
|
|
- 10 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/10?start=-3&limit=10&highlight=10"> 4p16.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615226"> ?Polydactyly, postaxial, type A6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615226"> 615226 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/194648"> ZNF141 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/194648"> 194648 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/326?start=-3&limit=10&highlight=326"> 5q15 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618498"> Polydactyly, postaxial, type A10 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618498"> 618498 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617266"> KIAA0825 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617266"> 617266 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/29?start=-3&limit=10&highlight=29"> 7p22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617642"> Polydactyly, postaxial, type A7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617642"> 617642 </a>
|
|
</span>
|
|
</td>
|
|
<td>
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<a href="/entry/617631"> IQCE </a>
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<a href="/entry/617631"> 617631 </a>
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<a href="/geneMap/7/211?start=-3&limit=10&highlight=211"> 7p14.1 </a>
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<span class="mim-font">
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<a href="/entry/174200"> Polydactyly, postaxial, types A1 and B </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/174200"> 174200 </a>
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<a href="/entry/165240"> GLI3 </a>
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<span class="mim-font">
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<a href="/entry/165240"> 165240 </a>
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<a href="/geneMap/7/453?start=-3&limit=10&highlight=453"> 7q22 </a>
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<span class="mim-font">
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<a href="/entry/608562"> Polydactyly, postaxial, type A4 </a>
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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<a href="/entry/608562"> 608562 </a>
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<span class="mim-font">
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<a href="/entry/608562"> PAPA4 </a>
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<span class="mim-font">
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<a href="/entry/608562"> 608562 </a>
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<a href="/geneMap/8/404?start=-3&limit=10&highlight=404"> 8q22.1 </a>
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<span class="mim-font">
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<a href="/entry/618219"> ?Polydactyly, postaxial, type A9 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/618219"> 618219 </a>
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<span class="mim-font">
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<a href="/entry/617273"> CIBAR1 </a>
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<span class="mim-font">
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<a href="/entry/617273"> 617273 </a>
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<a href="/geneMap/12/540?start=-3&limit=10&highlight=540"> 12q13.3 </a>
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<span class="mim-font">
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<a href="/entry/618123"> Polydactyly, postaxial, type A8 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/618123"> 618123 </a>
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<span class="mim-font">
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<a href="/entry/165220"> GLI1 </a>
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<span class="mim-font">
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<a href="/entry/165220"> 165220 </a>
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<a href="/geneMap/13/92?start=-3&limit=10&highlight=92"> 13q13.3-q21 </a>
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<span class="mim-font">
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<a href="/entry/263450"> Polydactyly, postaxial, type A5 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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<span class="mim-font">
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<a href="/entry/263450"> 263450 </a>
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<span class="mim-font">
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<a href="/entry/263450"> PAPA5 </a>
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<span class="mim-font">
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<a href="/entry/263450"> 263450 </a>
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<span class="mim-font">
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<a href="/geneMap/13/205?start=-3&limit=10&highlight=205"> 13q21-q32 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/602085"> Postaxial polydactyly, type A2 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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<span class="mim-font">
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<a href="/entry/602085"> 602085 </a>
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<span class="mim-font">
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<a href="/entry/602085"> PAPA2 </a>
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<span class="mim-font">
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<a href="/entry/602085"> 602085 </a>
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<a href="/geneMap/19/197?start=-3&limit=10&highlight=197"> 19p13.2-p13.1 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/607324"> Polydactyly, postaxial, type A3 </a>
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<span class="mim-font">
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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<span class="mim-font">
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<a href="/entry/607324"> 607324 </a>
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<span class="mim-font">
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<a href="/entry/607324"> PAPA3 </a>
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<span class="mim-font">
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<a href="/entry/607324"> 607324 </a>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that postaxial polydactyly type A8 (PAPA8) is caused by homozygous mutation in the GLI1 gene (<a href="/entry/165220">165220</a>) on chromosome 12q13.</p><p>Homozygous mutation in the GLI1 gene has also been reported to cause preaxial polydactyly type I (PPD1; <a href="/entry/174400">174400</a>).</p>
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<strong>Description</strong>
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<p>Postaxial polydactyly type A8 (PAPA8) is characterized by the presence of postaxial extra digits (hexadactyly) on the hands and/or the feet. The anomalous digits are well formed and have nails (<a href="#1" class="mim-tip-reference" title="Palencia-Campos, A., Ullah, A., Nevado, J., Yildirim, R., Unal, E., Ciorraga, M., Barruz, P., Chico, L., Piceci-Sparascio, F., Guida, V., De Luca, A., Kayserili, H., Ullah, I., Burmeister, M., Lapunzina, P., Ahmad, W., Morales, A. V., Ruiz-Perez, V. L. <strong>GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.</strong> Hum. Molec. Genet. 26: 4556-4571, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28973407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28973407</a>] [<a href="https://doi.org/10.1093/hmg/ddx335" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28973407">Palencia-Campos et al., 2017</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28973407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a discussion of genetic heterogeneity of postaxial polydactyly, see <a href="/entry/174200">174200</a>.</p>
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<strong>Clinical Features</strong>
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<p><a href="#1" class="mim-tip-reference" title="Palencia-Campos, A., Ullah, A., Nevado, J., Yildirim, R., Unal, E., Ciorraga, M., Barruz, P., Chico, L., Piceci-Sparascio, F., Guida, V., De Luca, A., Kayserili, H., Ullah, I., Burmeister, M., Lapunzina, P., Ahmad, W., Morales, A. V., Ruiz-Perez, V. L. <strong>GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.</strong> Hum. Molec. Genet. 26: 4556-4571, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28973407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28973407</a>] [<a href="https://doi.org/10.1093/hmg/ddx335" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28973407">Palencia-Campos et al. (2017)</a> studied 10 patients from 3 unrelated families with postaxial polydactyly. The first family was an extended multiply consanguineous Turkish pedigree in which the proband was a male infant who exhibited bilateral postaxial hexadactyly of hands and feet, as well as mild nail dysplasia, short stature, shortening of the long bones of the lower extremities, and atrial septal defect. The authors considered these features to be 'reminiscent of' Ellis-van Creveld syndrome (EVC; see <a href="/entry/225500">225500</a>). An 8-year-old boy and his 2-year-old male cousin, who were distant relatives of the proband, also had bilateral postaxial polydactyly of the hands; their heights were in the 10th to 25th percentile. Another distant female relative was reported to have had either unilateral or bilateral postaxial floating sixth finger that was surgically treated in infancy, and multiple affected members with only hand involvement were reported over 3 generations of another branch of the family. In an unrelated Turkish family, 2 brothers born of second-cousin parents had bilateral hexadactyly of the hands and feet, short stature, and genu valgum. The authors stated that although an extra metatarsal was reported to be present in the brothers' feet, there was no extra metacarpal in their hands. The third family was a consanguineous Pakistani pedigree in which 4 affected individuals with normal stature exhibited bilateral postaxial polydactyly of the feet, with 1 patient also showing postaxial polydactyly of the left hand. The authors stated that no metacarpal/metatarsal duplications were detected. No associated anomalies were reported in the Pakistani patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28973407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of PAPA8 in the families reported by <a href="#1" class="mim-tip-reference" title="Palencia-Campos, A., Ullah, A., Nevado, J., Yildirim, R., Unal, E., Ciorraga, M., Barruz, P., Chico, L., Piceci-Sparascio, F., Guida, V., De Luca, A., Kayserili, H., Ullah, I., Burmeister, M., Lapunzina, P., Ahmad, W., Morales, A. V., Ruiz-Perez, V. L. <strong>GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.</strong> Hum. Molec. Genet. 26: 4556-4571, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28973407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28973407</a>] [<a href="https://doi.org/10.1093/hmg/ddx335" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28973407">Palencia-Campos et al. (2017)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28973407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a consanguineous Turkish pedigree with postaxial polydactyly, in which the proband was negative for mutation in the EVC (<a href="/entry/604831">604831</a>), EVC2 (<a href="/entry/607261">607261</a>), and WDR35 (<a href="/entry/613602">613602</a>) genes, <a href="#1" class="mim-tip-reference" title="Palencia-Campos, A., Ullah, A., Nevado, J., Yildirim, R., Unal, E., Ciorraga, M., Barruz, P., Chico, L., Piceci-Sparascio, F., Guida, V., De Luca, A., Kayserili, H., Ullah, I., Burmeister, M., Lapunzina, P., Ahmad, W., Morales, A. V., Ruiz-Perez, V. L. <strong>GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.</strong> Hum. Molec. Genet. 26: 4556-4571, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28973407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28973407</a>] [<a href="https://doi.org/10.1093/hmg/ddx335" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28973407">Palencia-Campos et al. (2017)</a> performed homozygosity mapping using SNP arrays as well as whole-exome sequencing, and identified homozygosity for a nonsense mutation in the GLI1 gene (W780X; <a href="/entry/165220#0001">165220.0001</a>) in the proband (patient 1) and an affected 8-year-old boy who was a distant relative (patient 2). Another affected distant relative, a 2-year-old boy (patient 3), was heterozygous for the variant, whereas a distantly related female patient (patient 4) did not carry the mutation. Sequencing of GLI1 in 27 unrelated individuals with EVC or an EVC-like phenotype identified the proband of a consanguineous Turkish family (patient 5) with postaxial polydactyly and genu valgum who was homozygous for a different nonsense mutation in GLI1 (Q644X; <a href="/entry/165220#0002">165220.0002</a>), which was also found in homozygosity in his similarly affected brother (patient 6). Homozygosity for a third nonsense mutation in GLI1 (R113X; <a href="/entry/165220#0003">165220.0003</a>) was identified in 4 affected individuals from 2 sibships of a large consanguineous Pakistani pedigree (patients 7 to 10) with postaxial polydactyly. The proband of the original Turkish family, who exhibited additional features 'reminiscent of' EVC, also carried 2 heterozygous missense variants of unknown significance in the GLI2 gene (<a href="/entry/165230">165230</a>), which the authors suggested might account for his more severe phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28973407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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Palencia-Campos, A., Ullah, A., Nevado, J., Yildirim, R., Unal, E., Ciorraga, M., Barruz, P., Chico, L., Piceci-Sparascio, F., Guida, V., De Luca, A., Kayserili, H., Ullah, I., Burmeister, M., Lapunzina, P., Ahmad, W., Morales, A. V., Ruiz-Perez, V. L.
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<strong>GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.</strong>
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Hum. Molec. Genet. 26: 4556-4571, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28973407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28973407</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28973407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddx335" target="_blank">Full Text</a>]
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Marla J. F. O'Neill : 09/17/2018
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carol : 11/22/2022
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alopez : 05/04/2021<br>carol : 07/09/2019<br>alopez : 05/02/2019<br>carol : 12/04/2018<br>carol : 09/17/2018
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<strong>#</strong> 618123
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POLYDACTYLY, POSTAXIAL, TYPE A8; PAPA8
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<strong>ORPHA:</strong> 289;
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Phenotype
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Inheritance
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12q13.3
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Polydactyly, postaxial, type A8
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618123
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Autosomal recessive
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3
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GLI1
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165220
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<p>A number sign (#) is used with this entry because of evidence that postaxial polydactyly type A8 (PAPA8) is caused by homozygous mutation in the GLI1 gene (165220) on chromosome 12q13.</p><p>Homozygous mutation in the GLI1 gene has also been reported to cause preaxial polydactyly type I (PPD1; 174400).</p>
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<strong>Description</strong>
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<p>Postaxial polydactyly type A8 (PAPA8) is characterized by the presence of postaxial extra digits (hexadactyly) on the hands and/or the feet. The anomalous digits are well formed and have nails (Palencia-Campos et al., 2017). </p><p>For a discussion of genetic heterogeneity of postaxial polydactyly, see 174200.</p>
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<p>Palencia-Campos et al. (2017) studied 10 patients from 3 unrelated families with postaxial polydactyly. The first family was an extended multiply consanguineous Turkish pedigree in which the proband was a male infant who exhibited bilateral postaxial hexadactyly of hands and feet, as well as mild nail dysplasia, short stature, shortening of the long bones of the lower extremities, and atrial septal defect. The authors considered these features to be 'reminiscent of' Ellis-van Creveld syndrome (EVC; see 225500). An 8-year-old boy and his 2-year-old male cousin, who were distant relatives of the proband, also had bilateral postaxial polydactyly of the hands; their heights were in the 10th to 25th percentile. Another distant female relative was reported to have had either unilateral or bilateral postaxial floating sixth finger that was surgically treated in infancy, and multiple affected members with only hand involvement were reported over 3 generations of another branch of the family. In an unrelated Turkish family, 2 brothers born of second-cousin parents had bilateral hexadactyly of the hands and feet, short stature, and genu valgum. The authors stated that although an extra metatarsal was reported to be present in the brothers' feet, there was no extra metacarpal in their hands. The third family was a consanguineous Pakistani pedigree in which 4 affected individuals with normal stature exhibited bilateral postaxial polydactyly of the feet, with 1 patient also showing postaxial polydactyly of the left hand. The authors stated that no metacarpal/metatarsal duplications were detected. No associated anomalies were reported in the Pakistani patients. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of PAPA8 in the families reported by Palencia-Campos et al. (2017) was consistent with autosomal recessive inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In a consanguineous Turkish pedigree with postaxial polydactyly, in which the proband was negative for mutation in the EVC (604831), EVC2 (607261), and WDR35 (613602) genes, Palencia-Campos et al. (2017) performed homozygosity mapping using SNP arrays as well as whole-exome sequencing, and identified homozygosity for a nonsense mutation in the GLI1 gene (W780X; 165220.0001) in the proband (patient 1) and an affected 8-year-old boy who was a distant relative (patient 2). Another affected distant relative, a 2-year-old boy (patient 3), was heterozygous for the variant, whereas a distantly related female patient (patient 4) did not carry the mutation. Sequencing of GLI1 in 27 unrelated individuals with EVC or an EVC-like phenotype identified the proband of a consanguineous Turkish family (patient 5) with postaxial polydactyly and genu valgum who was homozygous for a different nonsense mutation in GLI1 (Q644X; 165220.0002), which was also found in homozygosity in his similarly affected brother (patient 6). Homozygosity for a third nonsense mutation in GLI1 (R113X; 165220.0003) was identified in 4 affected individuals from 2 sibships of a large consanguineous Pakistani pedigree (patients 7 to 10) with postaxial polydactyly. The proband of the original Turkish family, who exhibited additional features 'reminiscent of' EVC, also carried 2 heterozygous missense variants of unknown significance in the GLI2 gene (165230), which the authors suggested might account for his more severe phenotype. </p>
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<strong>REFERENCES</strong>
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Palencia-Campos, A., Ullah, A., Nevado, J., Yildirim, R., Unal, E., Ciorraga, M., Barruz, P., Chico, L., Piceci-Sparascio, F., Guida, V., De Luca, A., Kayserili, H., Ullah, I., Burmeister, M., Lapunzina, P., Ahmad, W., Morales, A. V., Ruiz-Perez, V. L.
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<strong>GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.</strong>
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Hum. Molec. Genet. 26: 4556-4571, 2017.
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[PubMed: 28973407]
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[Full Text: https://doi.org/10.1093/hmg/ddx335]
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Marla J. F. O'Neill : 09/17/2018
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carol : 11/22/2022<br>alopez : 05/04/2021<br>carol : 07/09/2019<br>alopez : 05/02/2019<br>carol : 12/04/2018<br>carol : 09/17/2018
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